A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review

We report the case of a 3-year-old boy recently diagnosed with FGD type 4 due to a novel mutation in NNT gene. A homozygous variant in exon 18 of the NNT gene, NM_012343.3:c.2764C>T, p.(Arg922*), determines a stop codon and, consequently, a non-functional truncated protein or absence of protein due to the nonsense-mediated decay (NMD) mechanism. We review the recent literature on NNT mutations and clinical presentations, which are broader than suspected. This disorder can result in significant morbidity and is potentially fatal if untreated. Precise diagnosis allows correct treatment and follow up.PMID:37352919 | DOI:10.1016/j.ando.2023.05.011

Source: Annales d'Endocrinologie - June 23, 2023 Category: Endocrinology Authors: Natividad Pons Ana Moriano Bel én Taberner Andr és Tarragon Eva D íez Ÿngel Zuñiga Cabrera Source Type: research